Canonical Allele Identifier: CA2620510310
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917179A>T , CM000674.2:g.102917179A>T GRCh38
NC_000012.11:g.103310957A>T , CM000674.1:g.103310957A>T GRCh37
NC_000012.10:g.101835087A>T NCBI36
NG_008690.1:g.5424T>A
NG_008690.2:g.46232T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-49T>A MANE Select ENSP00000448059.1:n.-49T>A
ENST00000307000.7:c.-196T>A ENSP00000303500.2:n.-196T>A
ENST00000546708.5:n.539T>A
ENST00000546844.1:c.-49T>A ENSP00000446658.1:n.-49T>A
ENST00000547319.1:n.263T>A
ENST00000549111.5:n.48T>A
ENST00000551337.5:c.-49T>A ENSP00000447620.1:n.-49T>A
ENST00000551988.5:n.41T>A
ENST00000553106.5:c.-49T>A ENSP00000448059.1:n.-49T>A
ENST00000635500.1:n.29-4281T>A
NM_000277.1:c.-49T>A NP_000268.1:n.-49T>A
XM_011538422.1:c.-49T>A XP_011536724.1:n.-49T>A
NM_000277.2:c.-49T>A NP_000268.1:n.-49T>A
NM_001354304.1:c.-49T>A NP_001341233.1:n.-49T>A
XM_017019370.2:c.-49T>A XP_016874859.1:n.-49T>A
NM_000277.3:c.-49T>A MANE Select NP_000268.1:n.-49T>A
NM_001354304.2:c.-49T>A NP_001341233.1:n.-49T>A